Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Adam Jackson Celia MossKate E ChandlerPablo Lopez BalboaMaria L BagetaGabriela PetrofAnna E MartinezLu LiuAlyson GuyJemima E MellerioJohn Y W LeeMalobi OgboliGavin Ryannull nullJohn A McGrath Siddharth Banka

Published in: The British journal of dermatology (2023)

Biallelic loss-of-function TUFT1 variants cause a new autosomal recessive skin/hair disorder characterized by woolly hair texture and early-onset skin fragility. Tuftelin-1 has a role in desmosomal integrity and function.

Keyphrases

early onset
intellectual disability
soft tissue
wound healing
late onset
copy number
autism spectrum disorder
magnetic resonance
contrast enhanced